Absence of H-Y antigen in an XY female with campomelic dysplasia

S. M. Puck, F. P. Haseltine, U. Francke

Research output: Contribution to journalArticle

Abstract

We have studied a stillborn infant who had the clinical and radiographic characteristics of campomelic dysplasia. External and internal genitalia were those of a normal female, except for slight enlargement of the clitoris. Microscopic examination of the ovaries revealed some areas resembling immature dysgenetic testicular tissue. Karyotypes from lymphocyte and fibroblast cultures were 46,XY with a structurally normal Y chromosome and no evidence of mosaicism. H-Y antigen was not detected on the fibroblasts in repeated assays using Raji cells as target cells after absorption. The "sexreversal" (chromosomal male→phenotypic female) previously noted in patients with autosomal recessive campomelic dysplasia thus may be mediated through lack of detectable H-Y antigen on the cell surface. It appears that the mutation leading to campomelic dysplasia interferes with normal H-Y antigen expression.

Original languageEnglish (US)
Pages (from-to)23-27
Number of pages5
JournalHuman Genetics
Volume57
Issue number1
DOIs
StatePublished - Mar 1981
Externally publishedYes

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Campomelic Dysplasia
H-Y Antigen
Fibroblasts
Clitoris
Mosaicism
Genitalia
Y Chromosome
Karyotype
Ovary
Lymphocytes
Mutation
XY female 46

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Absence of H-Y antigen in an XY female with campomelic dysplasia. / Puck, S. M.; Haseltine, F. P.; Francke, U.

In: Human Genetics, Vol. 57, No. 1, 03.1981, p. 23-27.

Research output: Contribution to journalArticle

Puck, SM, Haseltine, FP & Francke, U 1981, 'Absence of H-Y antigen in an XY female with campomelic dysplasia', Human Genetics, vol. 57, no. 1, pp. 23-27. https://doi.org/10.1007/BF00271161
Puck, S. M. ; Haseltine, F. P. ; Francke, U. / Absence of H-Y antigen in an XY female with campomelic dysplasia. In: Human Genetics. 1981 ; Vol. 57, No. 1. pp. 23-27.
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